Canonical Allele Identifier: CA456481977

Gene: PEX1

Linked Data

• COSMIC: COSM1452835
• MyVariant Identifiers: chr7:g.92129069T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499755T>C , CM000669.2:g.92499755T>C	GRCh38
NC_000007.13:g.92129069T>C , CM000669.1:g.92129069T>C	GRCh37
NC_000007.12:g.91967005T>C	NCBI36
NG_008341.1:g.33777A>G
NG_008341.2:g.33777A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2667A>G MANE Select	ENSP00000248633.4:p.Leu889=
ENST00000248633.8:c.2667A>G	ENSP00000248633.4:p.Leu889=
ENST00000428214.5:c.2496A>G	ENSP00000394413.1:p.Leu832=
ENST00000438045.5:c.1701A>G	ENSP00000410438.1:p.Leu567=
ENST00000484913.5:n.2706A>G
ENST00000496420.5:n.2559A>G
NM_000466.2:c.2667A>G	NP_000457.1:p.Leu889=
NM_001282677.1:c.2496A>G	NP_001269606.1:p.Leu832=
NM_001282678.1:c.2043A>G	NP_001269607.1:p.Leu681=
XM_005250433.3:c.918A>G	XP_005250490.1:p.Leu306=
XR_242246.3:n.2763A>G
XM_017012319.2:c.918A>G	XP_016867808.1:p.Leu306=
XR_001744808.2:n.1694A>G
XR_242246.5:n.2714A>G
NM_000466.3:c.2667A>G MANE Select	NP_000457.1:p.Leu889=
NM_001282677.2:c.2496A>G	NP_001269606.1:p.Leu832=
NM_001282678.2:c.2043A>G	NP_001269607.1:p.Leu681=